New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

A. Chen, S. Wayne, A. Bell, A. Ramesh, C. R S Srisailapathy, D. A. Scott, V. C. Sheffield, P. Van Hauwe, R. I S Zbar, J. Ashley, M. Lovett, G. Van Camp, R. J H Smith

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of prelingual inherited hearing impairment. A small consanguineous family with this disorder was ascertained through the Institute of Basic Medical Sciences in Madras, India. Conditions such as rubella, prematurity, drug use during pregnancy, perinatal trauma, and meningitis were eliminated by history. Audiometry was performed to confirm severe-to-profound hearing impairment in affected persons. After excluding linkage to known DFNB genes, two genomic DNA pools, one from the affected persons and the other from their non-affected siblings and the parents, were used to screen 165 polymorphic markers evenly spaced across the autosomal human genome. Two regions showing homozygosity-by-descent in the affected siblings were identified on chromosomes 3q21.3-q25.2 and 19p13.3p13.1, identifying one (or possibly both) as the site of a novel ARNSHL gene.

Original languageEnglish (US)
Pages (from-to)467-471
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume71
Issue number4
StatePublished - Sep 5 1997

Keywords

  • Autosomal recessive non-syndromic hearing impairment
  • Homozygosity mapping

ASJC Scopus subject areas

  • Genetics(clinical)

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    Chen, A., Wayne, S., Bell, A., Ramesh, A., Srisailapathy, C. R. S., Scott, D. A., Sheffield, V. C., Van Hauwe, P., Zbar, R. I. S., Ashley, J., Lovett, M., Van Camp, G., & Smith, R. J. H. (1997). New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. American Journal of Medical Genetics, 71(4), 467-471.